Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Hunter, Alasdair G. W.; Seaver, Laurie H.; Stevenson, Roger E.

doi:10.1002/ajmg.a.34161

Cited by 77 publications

(89 citation statements)

References 53 publications

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“…20,21 Three-dimensional ultrasound may contribute towards early detection of fetal acrania. 20 Cases of acrania in which an amniotic band is present and the cephalic pole adheres to the placenta, as seen in our case 24, has also been termed limb-body wall complex.…”

Section: Discussionmentioning

confidence: 99%

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Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil

Valdez

Picetti

et al. 2015

Sao Paulo Med. J.

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CONTEXT AND OBJECTIVE: Anencephaly is considered to be the most common type of neural tube defect.Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly. DESIGN AND SETTING: Population-based retrospective cohort study in a referral hospital in southern Brazil. METHODS:The sample consisted of fetuses referred due to suspected anencephaly, to the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas, between January 2005 and September 2013. Clinical, radiological, pathological and survival data were gathered. RESULTS: Our sample was composed of 29 fetuses. The diagnosis of suspected anencephaly was made on average at 21.3 weeks of gestation. Seven fetuses had malformations that affected other organs, and these included oral clefts (n = 4) and congenital heart defects (n = 2). In 16 cases, there was termination of pregnancy (n = 12) or intrauterine death (n = 4). Regarding those who were born alive (n = 13), all of them died in the first week of life. After postnatal evaluation, the diagnosis of anencephaly was confirmed in 22 cases (75.9%). Other conditions included amniotic band disruption complex (6.9%), microhydranencephaly (6.9%), merocrania (3.4%) and holoprosencephaly (3.4%). CONCLUSIONS: Different conditions involving the cranial vault may be confused with anencephaly, as seen in our sample. However, these conditions also seem to have a poor prognosis. It seems that folic acid supplementation is not being properly performed. RESULTADOS: Nossa amostra foi composta por 29 fetos. A suspeita do diagnóstico de anencefalia foi realizada em média com 21,3 semanas de gestação. Sete fetos apresentavam malformações que afetavam outros órgãos, e incluíram fendas orais (n = 4) e defeitos cardíacos congênitos (n = 2). Em 16 casos houve interrupção da gravidez (n = 12) ou morte intrauterina (n = 4). Daqueles que nasceram vivos (n = 13), todos morreram na primeira semana de vida. Após a avaliação pós-natal, o diagnóstico de anencefalia foi confirmado em 22 casos (75,9%). Outras condições incluíram o complexo disruptivo de banda amniótica (6,9%), microhidranencefalia (6,9%), merocrania (3,4%) e holoprosencefalia (3,4%). CONCLUSÕES: Diferentes condições que envolvem a calota craniana podem ser confundidas com a anencefalia, como verificado em nossa amostra. No entanto, estas também parecem ter um prognóstico pobre. A suplementação com ácido fólico parece não estar sendo realizada de forma adequada. RESUMO

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Section: Discussionmentioning

confidence: 99%

“…20 Cases of acrania in which an amniotic band is present and the cephalic pole adheres to the placenta, as seen in our case 24, has also been termed limb-body wall complex. 21 Fetal brain disruption sequence is considered to be a rare cause of extreme microcephaly. Early death, as observed in our fetuses, is common.…”

Section: Discussionmentioning

confidence: 99%

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil

Valdez

Picetti

et al. 2015

Sao Paulo Med. J.

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“…presence of two of following three abnormalities: (1) encephalocele/exencephaly with facial clefts, (2) thoraco or abdominoschisis and (3) limb defects. Various theories proposed for LBWC include anomalies of early embryonic disc/ectodermal placodes, amniotic rupture, compressions, bands, vascular hypoperfusion and failure of amnion fusion [3]. The prognosis of LBWC is poor when compared to isolated anterior abdominal wall defects [4].…”

Section: Discussionmentioning

confidence: 99%

Omphalocele Major with Absent Lower Limb

et al. 2013

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A newborn delivered by Caesarian section presented with an absent anterior abdominal wall and visible bowel loops and liver. The defect was covered by a thin membrane. The patient had associated absent left lower limb and right foot fusion defect. The patient was haemodynamically stable; general condition was average. No genito-urinary abnormality was detected. The anal opening was present normally, and the patient passed meconium immediately after birth. A diagnosis of omphalocele major with amelia was made. The patient was initially managed by topical application of povidone-iodine for eschar formation and epithelisation of the sac. The patient was discharged after 1 week with advice for regular follow-up.

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“…Posteriormente se propuso la "teoría vascular", que sugiere que el proceso se inicia con una necrosis vascular del amnios que produce disrupciones que predisponen a adherencia de partes embrionarias o fetales al amnios en los sitios necróticos y así se generan las bandas adheridas (34,35).…”

Section: Figuraunclassified

Pentalogía de Cantrell y bandas amnióticas: reporte de un caso y revisión de la literatura

Saldarriaga¹,

Ayala-Zapata²,

Ramírez-Cheyne³

et al. 2014

Rev. Colomb. Obstet. Ginecol.

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RepoRte de caso Rev Colomb Obstet Ginecol 2014;65:243-249 RESUMENObjetivo: reportar un caso de pentalogía de Cantrell asociado a acranea, hendidura facial medial y reducción de las extremidades derechas originado por bandas amnióticas. Realizar una revisión de la literatura sobre la patogénesis de las bandas amnió-ticas y los hallazgos en el caso reportado. Materiales y métodos: se presenta el caso de un recién nacido muerto, con malformaciones congé-nitas antes mencionadas, hijo de madre primigestante de 15 años con 34 semanas de gestación, que consultó al Hospital Universitario del Valle (HUV), hospital de nivel III y IV de referencia en obstetricia, de la red pública del suroccidente colombiano. Como fuente de información se utilizó la historia clínica, fotografías del recién nacido y los Rayos X. Se realizó una búsqueda de literatura con las palabras clave "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" en las bases de datos Medline vía PubMed en inglés y español, sin límite de tiempo; se buscaron reportes de caso, revisiones de tema y series de casos. Resultados: se encontraron treinta artículos, se analizaron todas las referencias y se halló que catorce corresponden a reportes de caso, ocho a revisiones de tema y ocho a series de casos. Conclusiones: se reporta un caso de pentalogía de Cantrell, posiblemente por bandas amnióticas originadas en el desarrollo embrionario. El caso se clasificó como complejo cuerpo-extremidad (LBWC), secundario a bandas amnióticas. Palabras clave: pentalogía de Cantrell, síndrome de bandas amnióticas, complejo cuerpo-extremidad. ABSTRACTObjective: To report a Pentalogy of Cantrell case associated with acrania, medial facial cleft and reduction of the right limbs as a result of amniotic bands; and to conduct a review of the literature on the pathogenesis of amniotic bands and the findings of the reported case. Materials and methods: Case report of a demised neonate with the above mentionated DOI: http://dx.doi.org/10.18597/rcog.51Revista Colombiana de Obstetricia y Ginecología Vol. 65 No. 3 • 2014 244 congenital malformations born to a 15 year-old primigravida in her 34 weeks of gestation who came to Hospital Universitario del Valle (HUV), a level III and IV referral hospital for obstetrics belonging to the public network in south-western Colombia. The clinical record, photographs of the neonate and X-Ray images were used as the sources of information. A search in the literature was conducted using the terms "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" through PubMed in the Medline databases in English and Spanish, with no time limitation; the search included case reports, topic reviews and case series. Results: Overall, 30 articles were found and all the references were analysed; 14 were case reports, 8 were topic reviews and 8 were case series. Conclusions: Report of a Pentalogy of Cantrell case, probably resulting from amniotic bands arising during embryo...

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Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Cited by 77 publications

References 53 publications

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil

Omphalocele Major with Absent Lower Limb

Pentalogía de Cantrell y bandas amnióticas: reporte de un caso y revisión de la literatura

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